In vivo base editing rescues ADPKD in a humanized mouse model.

ABSTRACT: Autosomal dominant polycystic kidney disease (ADPKD) is a genetic kidney disease, caused by mutations of the PKD1 and PKD2 genes, characterized by the development of renal cysts and extrarenal complications, such as cardiac hypertrophy. Recently, a revolutionary approach, adeno-associated virus (AAV) delivered CRISPR-Cas9 gene editing, has been developed to treat inherited diseases. However, the use of this technology in kidney diseases in vivo is challenged. In this study, we adapt one of the gene editing systems, adenine base editor (ABE9), to develop a broadly expressed and a kidney-specific promoter mediated base editors, and test the effects of these two systems delivered by AAV9 on preventing disease in humanized Pkd1^RC/RC mice carrying an arginine (R) to cystine (C) mutat

SUBMITTER: Cheng AS 

PROVIDER: S-EPMC12714704 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature